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Mutations in the gene for the E1β subunit: a novel cause of pyruvate dehydrogenase deficiency

Abstract:

We describe two unrelated patients with pyruvate dehydrogenase (PDH) deficiency attributable to mutations in the gene encoding the EIβ subunit of the complex. This is a previously unrecognised form of PDH deficiency, which most commonly results from mutations in the X-linked gene for the E1β subunit. Both patients had reduced immunoreactive E1β protein and both had missense mutations in the E1β gene. Activity of the PDH complex was restored in cultured fibroblasts from both patients by transf...

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Publication status:
Published
Peer review status:
Peer reviewed

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Publisher copy:
10.1007/s00439-004-1124-8

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Institution:
University of Oxford
Research group:
Genetics Unit
Department:
Medical Sciences Division - Biochemistry
Role:
Author
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Institution:
University of Oxford
Research group:
Genetics Unit
Department:
Medical Sciences Division - Biochemistry
Role:
Author
More by this author
Institution:
University of Oxford
Research group:
Genetics Unit
Department:
Medical Sciences Division - Biochemistry
Role:
Author
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Institution:
Institute of Child Health, London, UK
Department:
Biochemistry,Endocrinology and Metabolism Unit
Role:
Author
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Institution:
Southampton General Hospital, Southampton, UK
Department:
Department of Paediatric Neurology
Role:
Author
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Publisher:
Springer Publisher's website
Journal:
Human Genetics Journal website
Publication date:
2004-01-01
DOI:
EISSN:
1432-1203
ISSN:
0340-6717
URN:
uuid:ed1a3cc1-17b0-42b3-8569-609da04f3c2e
Local pid:
ora:5105
Language:
English
Subjects:

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